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Peutz-Jeghers Syndrome (PJS), a rare disorder that is either inherited from a parent or occurs spontaneously, is finally experiencing a strong upsurge in research and diagnosis options. This site seeks to offer information to patients, family, friends, and medical personnel. Any information provided is for general use only. It is not intended as medical advice or diagnosis, and it should not be relied on as a substitute for consultation and treatment with qualified health professionals. No warranty or guarantee is granted or implied.

Patients with PJS have hamaratomas predominately in the small intestine as well fewer amounts of the polyps in the large intestine and stomach. Purple/black pigment spots often dot the lips and other areas of the face and body. Most of the time, the spots disappear sometime in the teen years. Age at diagnosis depends on the severity of symptoms. New research has shown that there is an increased risk of cancer over the general population. The gene for the syndrome has been discovered, but genetic testing can still be inconclusive.

 

PJS manifests in varying ranges of severity and symptom development. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. The onset of symptoms is the usual catalyst for finding a diagnosis of PJS. Patients will typically develop tens to thousands of hamartomas (benign or pre-cancerous growths) in the stomach and intestines. Most of these polyps will be found in the small intestine. The most common ways of finding polyps, scopes and x-rays, usually fail to show the majority of the polyps in the small intestine. A new diagnosis tool created in Israel is beginning to change this. Information can be found in the "Advances" section of this site.
The newest and main concern related to this disorder is the high cancer risk over the general population (ie people without genetic predispositions to cancer). The discovery of this risk has elevated PJS from just a polyps-and-spots disorder to a genetic predisposition to cancer. Patients are encouraged to keep current with all recommended tests and doctor visits. Cancer can be treated easier when caught in its initial stages. Healthcare professionals are urged to work with their patients in keeping abreast of all current developments with PJS and cancer.

Medical advances have made finding treatment and diagnoses for even rare disorders easier and less invasive. Given® Imaging has created a way to effectively view the entire small intestine without the need for incisions. Use the link at the bottom of this page for additional information. This is an exciting development that allows doctors to see the entire length of the small intesting without the drawbacks of bariam x-rays or limitations of scopes.

Visicol is a new bowel prep that many patients might find easier to use before a colonoscopy. Instead of swallowing Go-Lightly or other liquids, the patient takes some capsules and drinks a lot of water. While some of the physical symptoms may end up being similar to using the normal preps, the ease and taste is much improved. A link is provided at the bottom of this page for further information to give to your doctor. 

 As with any health issue, there are more topics to consider than just the primary symptoms and treatments. Nutrition, genetics, mental health, and other treatment options can play an important role in improving and maintaining a higher quality of life. A well-informed patient has a better chance of having a high quality of life and better medical care. Use the buttons below or in the menu to the right to link to related topics.

 

Due to the heightened cancer risk associated with PJS, several sites are offered here to help patients learn more about cancer and various topics related to it. This is helpful for those with cancer and for those who do not have cancer. Being educated about your options will allow you to better assist in your own care. Various support groups exist for cancer patients and their families.


 

The recent discovery of the gene that causes PJS has made it more possible to provide genetic testing for diagnosing the syndrome in potential patients and families. Because there are limitations currently to the testing methods, it is not possible to always obtain a conclusive result. Somewhere down the road this may change. The choice to have or to forego genetic testing is purely a personal decision and has no right or wrong answer that fits everyone.